UAB researchers begin Parkinson’s research

By on March 10, 2014
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Parkinson’s disease is a degenerative disease that damages the midbrain. The disease eventually causes loss of mobility. It is a devastating disease that can destroy the livelihood of the patient.

As part of the Parkinson’s Progression Markers Initiative (PPMI), researchers here at the University of Alabama in Birmingham are going to study individuals with genetic mutations of the disease.  The Michael J. Fox Foundation for Parkinson’s Research sponsors this research initiative.

PPMI was launched back in 2010, and now takes place at 32 clinical sites internationally. The study completed initial enrollment back in April 2013 with 423 recently diagnosed Parkinson’s patients and 196 controls. Later that month, the study began recruiting more individuals with known Parkinson’s symptoms.

The study will look for participants with a known mutation of the LRRK or alpha-synuclein (SNCA) gene. Other studies have shown that these mutations contribute to a greater chance to develop Parkinson’s disease especially among certain ethnic groups such as the LRRK2 mutation in Jewish, Basque and North African Berber descent.

The results of this study will help further the understanding of Parkinson’s disease and hopefully fortify better therapy for the patients.

“Studying individuals with genetic mutations associated with Parkinson’s can accelerate our research toward a Parkinson’s disease biomarker and more effective treatments,” Department of Neurology Chair and primary investigator at UAB David Standaert, M.D., Ph.D. said.

“Although known genetic mutations account for only five to 10 percent of all Parkinson’s cases, this population can provide invaluable information about the intricacies of the disease for all patients,” Standaert said.

The study looks at the biological samples that are taken from patients with a genetic mutation to identify biomarkers and speed clinical trials. The study will enroll 250 individuals with the LRRK2 mutation and Parkinson’s disease, and another 250 with just the mutation. Because of the rarity of the SNCA mutation, only 50 with the mutation and Parkinson’s will be enrolled, and another 50 with just the SNCA mutation. All participants will be followed for five years.

These biomarkers that the study observes are the “substances, processes or characteristics of the body to communicate disease risk, onset and/or progression,” writer Bob Shepard writes.

Biomarkers help the researchers to better identify anomalies in a person’s genes and helps when it comes to diagnosis and disease management. This further aids the rate at which new drugs are developed for the disease, which makes Parkinson’s more difficult because there are no identified biomarkers yet.

“In the fourth year of PPMI, it is evident that a large-scale biomarker study is not only possible in Parkinson’s disease, but is already yielding scientific insights that could help transform the field of Parkinson’s research. The exceptional investigators at sites around the world, such as at UAB, have created the infrastructure that allows us to make such strides, by working together,” Ph.D., CEO of The Michael J. Fox Foundation Todd Sherer said.

Through continued efforts, PPMI may be able to further help Parkinson’s patients. For more information, visit www.michaeljfox.org/ppmi/genetics.

http://www.uab.edu/medicine/news/latest/item/358-study-investigates-genetics-of-parkinson-s-disease

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About Samuel Wainwright

I am currently a Freshman studying Biology. After receiving my Master's in Biology here at UAB, I will transfer to Auburn to get my Graduate's in Veterinary Medicine.
 
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